Test Detail

Inherited and familial lung disease described in the Dalmatian, with acute respiratory distress syndrome (ARDS) that is fatal in young dogs. The causal variant is a premature stop codon in the ANLN gene (anillin), which disrupts the organisation of the bronchiolar epithelium and predisposes to respiratory distress. Affected dogs may also present unilateral renal aplasia and hydrocephalus. It affects the respiratory system and constitutes a life-threatening emergency.

Affects the Dalmatian. Carrier frequency of 1.7% in a cohort of 188 Dalmatians; seven molecularly confirmed cases. Limited data on the overall population.

- Genotype breeding animals with the specific ANLN test before mating
- Do not mate carrier × carrier (25% risk of affected homozygotes); carrier × clear produces 0% affected and 50% carriers
- An affected animal must not be bred
- Communicate the status to the buyer

The differential diagnosis includes bacterial pneumonia, cardiogenic pulmonary oedema, pulmonary thromboembolism, aspiration pneumonia and toxic lesions. The diagnosis of ARDS requires excluding cardiac failure (echocardiography, NT-proBNP) and an identifiable infectious cause. Management is supportive (oxygen therapy, mechanical ventilation) as an emergency. The ANLN genetic test allows carriers to be identified and risk matings to be avoided; occasional unilateral renal aplasia and hydrocephalus have been described in affected dogs.

1. Järvinen AK et al. (1995) Lung injury leading to respiratory distress syndrome in young Dalmatian dogs. J Vet Intern Med. PMID: 7674217
2. Syrjä P et al. (2009) Pulmonary histopathology in Dalmatians with familial acute respiratory distress syndrome (ARDS). J Comp Pathol. PMID: 19628215
3. Holopainen S et al. (2017) ANLN truncation causes a familial fatal acute respiratory distress syndrome in Dalmatian dogs. PLoS Genet. PMID: 28222102
4. OMIA:002539-9615 Respiratory distress syndrome, ANLN-related. https://omia.org/OMIA002539/9615/